Newman Endo Repro Flashcards
List primary symtpoms primary adrenal insuffiency
Ok
What space are kidneys and adrenals
Retroperitoneum
Short term stress
Catecholamines, NE, E
Long term stree
Glucocorticoids mineralocorticoids
GFR
Glomerulosclerosis, fasciculata, reticularis
Salty sweet spiced
Mineralocorticoids, glucocorticoids, sex steroids
Describe HPA axis cortisol
Hypothalamus release CRH to anterior pituitary
Anterior pituitary send acth to adrenal cortex
Adrenal cortex makes cortisol which sends negative feedback to anterior pituitary and hypothalamus
RAAS
Renin angiotensin aldosterone system
Aldosterone effect
Na retention
K secretion
Baby in looked good in nursery and feeding ok. Comes in day 6 thrown up but looks dehydrated, very dry mucous membranes(signs in baby—dry mucous membranes, no tears, anterior fontanells) bp 60/30, sluggish weak cry
Find a female genetalia, looks like a penis? Masculine , clitoramegonly, maasculinzation of female genetalia
VIRILIZED
Virilized, low bp, dehydration
21 hydroxylase defiency
Congenital adrenal hyperplasia
Lack of aldosterone
Lack of cortisol and aldosterone…flow over to DHEA< androstenedione, and testerostone
Lose na lose water
Lab work CAH
Na low, K high, Cl low, bicarb low, BUN high, glucose low
Why girl better CAH
Girl genital show virilization
Why glucose low
Cortisol stimulate gluconeogenesis (something insulin)
What order
17 a OH
Treat CAH
Hydroxycortisone, fluids/glucose, get K level down
Primary adrenal insuffiency
Autoimmune (most common cause in US)
Most common infectious cause primary adrenal insuffiency
TB-SEE CALCIFICATIONS ON MRI
X linked recessive disorder of long chain FA metabolism
Mimic MS
Waterhouse friedreich Sean syndrome
Bilateral adrenal hemorrhage
ACTH darkening of the skin
MSH of PMC
Inherited adrenal unresponsiveness to ACTH
Familial glucocorticoid defiency (AR)
Increase acth causes skin pigmentation
Triple A
Rare AR adrenal gland no respond to ACTH so ACTH so high
Mutation int he AAAAS gene that codes for the protein ALADIN
Congenital adrenal hyperplasia
21 hydroxylase defiency most common
Salt wasting
Defiency cortisol and aldosterone
Excessive androgens
Sometimes called Addison in older children/adulthood
Adrenal insuffiency how do they present
Fatigue, reduced stamina, weakness, anorexia, weight loss, skin hyperpigmentation
What do patients complain of with primary adrenal insuffiency
Abdominal pain, nausea, vomiting, msk pain (joint, muscles, chest, back), psychiatric (depression, anxiety, irritability), HA, vomiting, gait disturbance, salt craving and orthostatic light headedness, BP is usually low and orthostatic
Female infant with 21 hydroxylase defiency will have virilized genetalia
Ok
Labs primary adrenal insuffiency
Na low, K high, low blood sugar, maybe hypercalcemia, plasma cortisol ***
Low 8 am plasma cortisol (low morning high night) and do ACTH level and its high
Primary adrenal insuffiency
Confirmatory test
Cosyntropin (synthetic acth) stimulation test
If cortisol doesn’t respond to acth
Confirm primary corticoinsuffiency
Serum antibodies to 21 hydroxylase
Confirm autoimmmune Addison
Lab to see 21 hydroxylase defiency
Elevated serum levels of 17 oh progesterone are required
Plasma renin high primary adrenal insuffiency
Sense hypovolemia
Treat primary adrenal insuffiency
Glucocorticoids replacement therapy, mineralocorticoids therapy
Acute adrenal crisis symptoms
Ab pain
Confusion
Dehydration
Dizziness
Fatigue
High fever (
Labs acute adrenal crisis
ACTH stimulation test, cortisol blood sugar, K , serum Na, serum pH (
Secondary adrenal insuffiency
Low serum ACTH in the setting of low serum cortisol is the give away
32 year old purple tiger stripes on abdomen , high BP, periods irregular, crappy feeling, hump back
Striae, Cushing
Cushing
Excessive corticosteroids
Vague weird symptoms
ACTH dependent cushing
Cushing disease (ACTH secretory adenoma)
ACTH independent cushing syndrome
Exogenous corticosteroid use (most common cause)
Adrenocortical tumor
Mccune albright syndrome
Polycyotic fibrous dysplasia, cafe at lair, endocrine hyperfunction from multiple organ)
Extopic acth
AAC of lung
Cushing disease
Pituitary adenoma
Cushing syndrome
Ectopic acth
SSC of lung
Dexamasone test
Draw serum acth before
ACTH lelvated in hundred, cortisol not suppressed by high or low doses
Ectopic acth syndrome is likely
Undetectable or low acth, cortisol not suppressed by high or low doses
Primary hypercortisolism is likely (not driven by acth, possible adrenal tumor)
Normal to elevated acth, cortisol not suppressed by low but suppressed by IgG
Cushing disease (pituitary still retains some feedback control)
Incidentalomas
Accidentally find nodule in adrenal >4 cm have to do work up and makes sure not malignant with CT and MRI
All patients with adrenal incidentaloma require testing for _____. How
Pheochromocytoma
Plasma metanephrines
Urine collection
Primary aldosteronism
HTN that is resistant and descent respond to three drugs think of this
Conn syndrome
Primary aldosteronism secondary to a unilateral aldosterone-producing adrenal adenoma
40% have a mutation in a gene coding for the K channel
Signs symtpoms primary aldosteronism
HTN and hypokalemia
Lab finding primary aldosteronism
Metabolic alkalosis (proton lows, H with K)
Pheochromocytoma
VHL type 2
AD
Get it
Bp high, sweating,
Lab pheochromocytoma
Plasma fractioned free metanephrines is the single msot sensitive test for secretory pheochromocytoma and paragangliomas
Treating suspected pheochromocytoma
Alpha blocker before beta blocker otherwise bp can go up
MEN
AD
Have tumours in 2 or more different endocrine glands
Growth curve PEDS : how measure length
Laying down
Measure height or stature
Standing up
Over 36 months
Standing up
Normal BMI kids
Percentile
Normal weight kids
Greater than or equal to 5th percentile and less than 85th percentile
Normal weight adult
BMI 18,5-24.9
6 here’s of age till puberty growth per year
2 inches a year
Mid parental height
Genetic potential …estimate of genetic potential for girls and boys different
Weight falls off first
Think nutrition
Not getting enough or processing enough
Higher than average caloric requirements
Length fallow off first
Think endocrine
GH defiency, hypothyroidism, cushing syndrome (iatrogenic)
Head circumference falls off first
Primary failure of the brain to grow
Severe craniosynstosis
Bone age
Provides a rough estimate of a kids skeletal maturation by assessing the ossification of the epiphyseal centers
Bone age is 2 SD below the chronological age is considered delayed
What bone age is considered delayed
2 SD
Abnormal growth
A comprehensive history and physical is essential in developing the differential diagnosis and guiding the work up
What most important of work up of kid not growing well
History and physical
Evaluating growth. How many points on the growth curve
More better
Get as many points on growth curve as you can
Ok
Catch up or catch down
First 18 months of life plotting kids make 25% downward adjustment as go from Abby food to solid food. They’ll catch p but a lot make a downward adjustment.
Constitutional growth delay
Late bloomer, few months big growth
Grow grow grow, slow down then catch back up
End height if have precocious puberty
Shorter than normal. Growth plates mature cant grow anymore
Grow really fast when dont expect then off
Familial -come form land of little people
Cushing curve
Gaining weight, but height not up up
Short stature
Height 2SD less than the 3rd percentile (mean height for age and sex)
Height more than 2SD below the mid parental height
Intima work up for concerning short stature and not explained by constitutional, familial, and idiopathic
IGF and IGFBP-3 levels
IGF and IGFBP-3 levels
Insulin like growth factor
Turner
45 XO with delayed puberty/short stature in females always check a karyotyoe
Web neck
Wide nipples
Lab work turner0short stature
Check karyotype and see if 45 XO
Precocious puberty less than 8 years old girls and 9 in men
Full activation of HPG axis before 8 years of age in girls and before 9 years of age in boys
Consider precocious puberty in girls
Progressive breast development
Crossing major percentile lines upward on the linear growth chart
Consider precocious puberty in boys if
Evidence of both testicular and penile enlargement
Crossing major percentile lines upward not he linear growth chart
Bone age precocious puberty
Advanced bone age
Premature adrenarche
Increase in DHEA and its storage from DHEA-S
Pubic hair, axillary hair ,odor, sometimes acne
Straight thin hair
No worry
Curly thick hair and other secondary sexual characteristics of growth sky rocketing
Work up look at growth look at other sexual characteristics
Only thin little pubic hair
Fine
Premature thelarche
Breast early
Usually feel bud in kids just watch
If related to acceleration work up as precocious puberty
Hypothyroidism
Increase BMI from growth arrest with continued weight gain
Family history always watch
Tall stature
Beckwith-wiedemann syndrome(big head wen young, normal adult height)
Insulin like growth factor 2
Homocystinuria
Infant of diabetic mother
Big when little
Klinefelter syndrome
47 XXY
Marian
AD
Connective tissue
Fibrillin-1 gene mutation genetic consultation
Dissecting aortic aneurysm
When refer growth
Less than 3rd percentile or greater 95th and continues to rise or drop
Increase growth velocity between schoool age and puberty
Growth potential: projected height varies from midparental height by more than 2 inches
Multiple dystrophic features send to geneticist
Bone age advanced of delayed by more the 2 SF
